الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Glucose6phosphate dehyrogenase enzyme deficiency is the most common human enzymopathy. In this study we try to throw a light on the frequency of G6PD enzyme deficiency and G6PD gene meditrranean mutation among Egyptain samples were taken from 70 neonates presented to the neonatal care unit, Mansoura University Children Hospital with high or prolnged jaundice. All these neonates were subjected to screening program for G6PD enzyme deficiency using chemical method, dye decolouration test in addition to molecular method. In addition, routine liver function tests were evaluated. Furthermore, haemoglobin concentration and Creactive protein were also determined. The most important results are summarized as follows: 1 By using qualitative screening test, it was found that 5 cases (7%) of studied neonates had a G6PD enzyme deficiency, another 3 (4.3%) cases were found to carry the G6PD Mediterranean mutation by using PCR. 2 Interestingly, the cases which were found to be + ve by using PCR had a false negative qualitative enzyme assay. 3 Three females were found to have abnormal G6PD enzyme activity among our studied neonate with high or prolonged jaundice of them one tested + ve for mediterraean gene mutation (heterozygous) by PCR and had + for mediterrancay gene mutation (heterozygous) by PCR and 2 had prolonged decoloration test by using qualitafative assay.